Incidental Mutation 'R3690:Vmn2r116'
| ID |
269751 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vmn2r116
|
| Ensembl Gene |
ENSMUSG00000090966 |
| Gene Name |
vomeronasal 2, receptor 116 |
| Synonyms |
V2Rp5, EG619697 |
| MMRRC Submission |
040685-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R3690 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
23384803-23401864 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 23384824 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 8
(F8I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164856]
|
| AlphaFold |
E9Q6I0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000164856
AA Change: F8I
|
| SMART Domains |
Protein: ENSMUSP00000128106
Gene: ENSMUSG00000090966
AA Change: F8I
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:ANF_receptor
|
73 |
469 |
4.4e-30 |
PFAM |
|
Pfam:NCD3G
|
511 |
564 |
1.2e-22 |
PFAM |
|
low complexity region
|
589 |
594 |
N/A |
INTRINSIC |
|
Pfam:7tm_3
|
595 |
832 |
8.7e-57 |
PFAM |
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (54/55) |
| MGI Phenotype |
PHENOTYPE: Female mice homozygous for a knock-out allele stimulated with male pheromone (Gm6084) fail to exhibit an increase in lordosis behavior and successful intromission. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
T |
A |
6: 23,091,329 (GRCm38) |
Y629F |
probably benign |
Het |
| Abcb5 |
T |
A |
12: 118,872,933 (GRCm38) |
D1081V |
probably damaging |
Het |
| Afdn |
A |
G |
17: 13,888,409 (GRCm38) |
E1398G |
probably damaging |
Het |
| Atp8b5 |
T |
C |
4: 43,368,055 (GRCm38) |
C893R |
probably damaging |
Het |
| Avl9 |
C |
T |
6: 56,736,827 (GRCm38) |
H357Y |
probably benign |
Het |
| Bclaf1 |
C |
T |
10: 20,325,397 (GRCm38) |
T423I |
possibly damaging |
Het |
| Btbd19 |
A |
T |
4: 117,120,592 (GRCm38) |
|
probably benign |
Het |
| Cap1 |
A |
G |
4: 122,864,626 (GRCm38) |
S254P |
probably damaging |
Het |
| Cdc42ep1 |
T |
C |
15: 78,847,429 (GRCm38) |
S25P |
probably benign |
Het |
| Cln6 |
T |
C |
9: 62,846,970 (GRCm38) |
I98T |
possibly damaging |
Het |
| Cul9 |
T |
C |
17: 46,504,031 (GRCm38) |
|
probably null |
Het |
| Dcx |
T |
C |
X: 143,877,244 (GRCm38) |
E268G |
possibly damaging |
Het |
| Ddias |
G |
A |
7: 92,860,158 (GRCm38) |
P183L |
probably benign |
Het |
| Dnase2b |
A |
T |
3: 146,593,571 (GRCm38) |
Y42* |
probably null |
Het |
| Dusp16 |
C |
T |
6: 134,761,119 (GRCm38) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,871,881 (GRCm38) |
|
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,226,356 (GRCm38) |
V842A |
probably benign |
Het |
| Folr1 |
T |
C |
7: 101,858,538 (GRCm38) |
S232G |
probably benign |
Het |
| Foxj3 |
T |
C |
4: 119,616,642 (GRCm38) |
|
probably benign |
Het |
| Fpr-rs6 |
T |
C |
17: 20,182,875 (GRCm38) |
M75V |
probably benign |
Het |
| Fxyd5 |
G |
T |
7: 31,036,439 (GRCm38) |
L128M |
possibly damaging |
Het |
| Gigyf2 |
T |
C |
1: 87,421,516 (GRCm38) |
S500P |
possibly damaging |
Het |
| Inppl1 |
A |
G |
7: 101,832,068 (GRCm38) |
L268P |
probably damaging |
Het |
| Klk1b24 |
A |
T |
7: 44,191,819 (GRCm38) |
H192L |
probably benign |
Het |
| Llgl1 |
T |
G |
11: 60,707,002 (GRCm38) |
Y316D |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,762,293 (GRCm38) |
*143R |
probably null |
Het |
| Map3k15 |
T |
A |
X: 160,122,572 (GRCm38) |
N1295K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,482,679 (GRCm38) |
E678G |
probably damaging |
Het |
| Mrpl44 |
T |
A |
1: 79,779,649 (GRCm38) |
Y270* |
probably null |
Het |
| Nav1 |
T |
A |
1: 135,467,644 (GRCm38) |
I996L |
probably benign |
Het |
| Neb |
T |
C |
2: 52,137,385 (GRCm38) |
E6868G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 104,087,607 (GRCm38) |
Y235N |
probably damaging |
Het |
| Nup50 |
C |
T |
15: 84,939,793 (GRCm38) |
T449M |
probably damaging |
Het |
| Olfr11 |
A |
G |
13: 21,639,338 (GRCm38) |
F62L |
probably damaging |
Het |
| Olfr294 |
G |
A |
7: 86,616,478 (GRCm38) |
P56S |
probably damaging |
Het |
| Olfr612 |
T |
C |
7: 103,539,067 (GRCm38) |
T56A |
probably benign |
Het |
| Olfr666 |
T |
C |
7: 104,893,517 (GRCm38) |
Y37C |
possibly damaging |
Het |
| Olfr675 |
A |
G |
7: 105,024,695 (GRCm38) |
L95P |
probably damaging |
Het |
| Pald1 |
A |
T |
10: 61,355,808 (GRCm38) |
|
probably null |
Het |
| Pde11a |
T |
A |
2: 76,291,166 (GRCm38) |
K357I |
probably damaging |
Het |
| Ric3 |
A |
G |
7: 109,038,610 (GRCm38) |
V312A |
possibly damaging |
Het |
| Scaper |
C |
T |
9: 55,883,921 (GRCm38) |
G231D |
probably benign |
Het |
| Smc1b |
T |
A |
15: 85,117,263 (GRCm38) |
|
probably benign |
Het |
| Smcr8 |
A |
G |
11: 60,778,028 (GRCm38) |
M1V |
probably null |
Het |
| Smtn |
T |
C |
11: 3,527,687 (GRCm38) |
|
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,268,295 (GRCm38) |
K42* |
probably null |
Het |
| Taf7l |
A |
T |
X: 134,464,325 (GRCm38) |
I449K |
probably damaging |
Het |
| Tex47 |
A |
G |
5: 7,304,777 (GRCm38) |
|
probably benign |
Het |
| Tram2 |
T |
A |
1: 21,005,600 (GRCm38) |
Y198F |
probably damaging |
Het |
| Ttn |
C |
G |
2: 76,799,244 (GRCm38) |
W14284C |
probably damaging |
Het |
| Ube3a |
A |
G |
7: 59,276,799 (GRCm38) |
K442E |
probably damaging |
Het |
| Vmn2r59 |
A |
G |
7: 42,011,946 (GRCm38) |
F815S |
possibly damaging |
Het |
| Zap70 |
T |
C |
1: 36,781,412 (GRCm38) |
C563R |
probably damaging |
Het |
| Zfp579 |
T |
C |
7: 4,994,720 (GRCm38) |
H64R |
probably damaging |
Het |
|
| Other mutations in Vmn2r116 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00898:Vmn2r116
|
APN |
17 |
23,385,995 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL00985:Vmn2r116
|
APN |
17 |
23,401,515 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,387,236 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL00990:Vmn2r116
|
APN |
17 |
23,397,727 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01383:Vmn2r116
|
APN |
17 |
23,401,601 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01459:Vmn2r116
|
APN |
17 |
23,384,929 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01725:Vmn2r116
|
APN |
17 |
23,386,645 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02125:Vmn2r116
|
APN |
17 |
23,397,627 (GRCm38) |
splice site |
probably benign |
|
|
IGL02170:Vmn2r116
|
APN |
17 |
23,384,933 (GRCm38) |
missense |
probably benign |
|
|
IGL02209:Vmn2r116
|
APN |
17 |
23,388,787 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02226:Vmn2r116
|
APN |
17 |
23,384,834 (GRCm38) |
missense |
probably null |
|
|
IGL02272:Vmn2r116
|
APN |
17 |
23,386,004 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02272:Vmn2r116
|
APN |
17 |
23,385,999 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL02403:Vmn2r116
|
APN |
17 |
23,387,364 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02686:Vmn2r116
|
APN |
17 |
23,388,793 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02750:Vmn2r116
|
APN |
17 |
23,397,634 (GRCm38) |
splice site |
probably benign |
|
|
IGL02977:Vmn2r116
|
APN |
17 |
23,388,774 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
PIT4449001:Vmn2r116
|
UTSW |
17 |
23,388,947 (GRCm38) |
missense |
probably benign |
0.41 |
|
R0015:Vmn2r116
|
UTSW |
17 |
23,401,849 (GRCm38) |
missense |
probably benign |
0.03 |
|
R0219:Vmn2r116
|
UTSW |
17 |
23,386,098 (GRCm38) |
nonsense |
probably null |
|
|
R0281:Vmn2r116
|
UTSW |
17 |
23,401,413 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R0415:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R0592:Vmn2r116
|
UTSW |
17 |
23,386,915 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0610:Vmn2r116
|
UTSW |
17 |
23,387,312 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0635:Vmn2r116
|
UTSW |
17 |
23,386,887 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0843:Vmn2r116
|
UTSW |
17 |
23,400,960 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1329:Vmn2r116
|
UTSW |
17 |
23,387,188 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R1396:Vmn2r116
|
UTSW |
17 |
23,386,141 (GRCm38) |
missense |
probably benign |
|
|
R1401:Vmn2r116
|
UTSW |
17 |
23,386,596 (GRCm38) |
splice site |
probably benign |
|
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1574:Vmn2r116
|
UTSW |
17 |
23,387,089 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1766:Vmn2r116
|
UTSW |
17 |
23,401,766 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2157:Vmn2r116
|
UTSW |
17 |
23,401,469 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3622:Vmn2r116
|
UTSW |
17 |
23,386,051 (GRCm38) |
missense |
probably benign |
0.11 |
|
R4298:Vmn2r116
|
UTSW |
17 |
23,401,827 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R4373:Vmn2r116
|
UTSW |
17 |
23,401,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4860:Vmn2r116
|
UTSW |
17 |
23,401,803 (GRCm38) |
missense |
probably benign |
|
|
R4941:Vmn2r116
|
UTSW |
17 |
23,401,142 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5119:Vmn2r116
|
UTSW |
17 |
23,387,164 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5503:Vmn2r116
|
UTSW |
17 |
23,386,804 (GRCm38) |
missense |
probably benign |
0.07 |
|
R5510:Vmn2r116
|
UTSW |
17 |
23,386,121 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5538:Vmn2r116
|
UTSW |
17 |
23,401,067 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5689:Vmn2r116
|
UTSW |
17 |
23,397,719 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5765:Vmn2r116
|
UTSW |
17 |
23,401,404 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5794:Vmn2r116
|
UTSW |
17 |
23,385,968 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5807:Vmn2r116
|
UTSW |
17 |
23,387,307 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5837:Vmn2r116
|
UTSW |
17 |
23,387,080 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6262:Vmn2r116
|
UTSW |
17 |
23,387,377 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6298:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6651:Vmn2r116
|
UTSW |
17 |
23,388,831 (GRCm38) |
nonsense |
probably null |
|
|
R6667:Vmn2r116
|
UTSW |
17 |
23,401,092 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7393:Vmn2r116
|
UTSW |
17 |
23,386,125 (GRCm38) |
missense |
probably benign |
0.14 |
|
R7571:Vmn2r116
|
UTSW |
17 |
23,384,856 (GRCm38) |
splice site |
probably null |
|
|
R7940:Vmn2r116
|
UTSW |
17 |
23,386,972 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8510:Vmn2r116
|
UTSW |
17 |
23,385,931 (GRCm38) |
nonsense |
probably null |
|
|
R8950:Vmn2r116
|
UTSW |
17 |
23,401,493 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8956:Vmn2r116
|
UTSW |
17 |
23,386,762 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8977:Vmn2r116
|
UTSW |
17 |
23,386,942 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9030:Vmn2r116
|
UTSW |
17 |
23,384,890 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R9077:Vmn2r116
|
UTSW |
17 |
23,385,982 (GRCm38) |
missense |
probably benign |
0.14 |
|
R9223:Vmn2r116
|
UTSW |
17 |
23,401,167 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9401:Vmn2r116
|
UTSW |
17 |
23,401,592 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9449:Vmn2r116
|
UTSW |
17 |
23,386,945 (GRCm38) |
missense |
probably benign |
0.01 |
|
R9746:Vmn2r116
|
UTSW |
17 |
23,401,823 (GRCm38) |
missense |
probably benign |
0.08 |
|
R9755:Vmn2r116
|
UTSW |
17 |
23,401,091 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9759:Vmn2r116
|
UTSW |
17 |
23,401,386 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R9800:Vmn2r116
|
UTSW |
17 |
23,401,425 (GRCm38) |
missense |
probably damaging |
0.97 |
|
S24628:Vmn2r116
|
UTSW |
17 |
23,387,279 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
Z1176:Vmn2r116
|
UTSW |
17 |
23,401,428 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Vmn2r116
|
UTSW |
17 |
23,388,892 (GRCm38) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAATGATTCCTCCAGGGGTG -3'
(R):5'- CCTCATCCTCAGTAGTCTTGGG -3'
Sequencing Primer
(F):5'- TTCCTCCAGGGGTGAGGAAAC -3'
(R):5'- CCTCAGTAGTCTTGGGAAACATTC -3'
|
| Posted On |
2015-02-19 |
Incidental Mutation